Variant report

Variant	rs73552843
Chromosome Location	chr19:42696381-42696382
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr19:42695989-42696446	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr19:42695976-42696435	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr19:42696005-42696445	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr19:42696002-42696430	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr19:42695801-42696699	HCT-116	colon:	n/a	n/a
6	FOSL2	chr19:42696066-42696453	HepG2	liver:	n/a	n/a
7	EP300	chr19:42696033-42696420	HepG2	liver:	n/a	n/a
8	MYC	chr19:42695973-42696488	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr19:42695983-42696424	HCT-116	colon:	n/a	n/a
10	FOSL2	chr19:42695929-42696495	A549	lung:	n/a	n/a
11	STAT3	chr19:42695999-42696408	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr19:42696056-42696402	HCT-116	colon:	n/a	n/a
13	STAT3	chr19:42695981-42696477	MCF10A-Er-Src	breast:	n/a	n/a
14	KAP1	chr19:42696016-42696543	U2OS	brain:	n/a	n/a
15	JUN	chr19:42695949-42696600	K562	blood:	n/a	n/a
16	FOS	chr19:42696032-42696417	MCF10A-Er-Src	breast:	n/a	n/a
17	ZNF263	chr19:42696080-42696470	HEK293-T-REx	kidney:	n/a	n/a
18	FOSL1	chr19:42695779-42696533	HCT-116	colon:	n/a	n/a
19	STAT3	chr19:42695962-42696406	Hela-S3	cervix:	n/a	n/a
20	SP1	chr19:42695773-42696669	HCT-116	colon:	n/a	n/a
21	FOS	chr19:42696046-42696425	MCF10A-Er-Src	breast:	n/a	n/a
22	BHLHE40	chr19:42695949-42696510	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42695805..42698002-chr19:42744697..42747110,2	MCF-7	breast:
2	chr19:42695492..42697523-chr19:42700242..42702425,2	MCF-7	breast:
3	chr19:42696224..42699166-chr19:42699583..42702405,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265122	TF binding region
ENSG00000204957	Chromatin interaction
ENSG00000028277	Chromatin interaction
ENSG00000105723	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1055512	1.00[EUR][1000 genomes]
rs1205964	1.00[EUR][1000 genomes]
rs1685562	1.00[EUR][1000 genomes]
rs35272495	1.00[EUR][1000 genomes]
rs61733017	1.00[EUR][1000 genomes]
rs7254956	1.00[EUR][1000 genomes]
rs73552847	1.00[EUR][1000 genomes]
rs874013	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv275463	chr19:42688997-42700516	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42681800-42703600	Weak transcription	Right Atrium	heart
2	chr19:42689000-42700400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:42689200-42697400	Weak transcription	HSMMtube	muscle
4	chr19:42689800-42702400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:42689800-42702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:42690000-42697400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr19:42690000-42700200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:42690200-42700200	Weak transcription	Primary B cells from cord blood	blood
9	chr19:42690200-42700400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:42690200-42701200	Weak transcription	Dnd41	blood
11	chr19:42695000-42696800	Enhancers	Fetal Intestine Small	intestine
12	chr19:42695200-42696400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr19:42695200-42696400	Enhancers	Fetal Thymus	thymus
14	chr19:42695200-42696600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr19:42695200-42696600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr19:42695200-42696600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr19:42695200-42696800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr19:42695200-42696800	Enhancers	Duodenum Mucosa	Duodenum
19	chr19:42695200-42696800	Enhancers	Fetal Intestine Large	intestine
20	chr19:42695200-42697000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr19:42695200-42697200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:42695200-42697600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr19:42695200-42698600	Enhancers	Stomach Mucosa	stomach
24	chr19:42695400-42696400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr19:42695400-42696400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:42695400-42696600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr19:42695400-42696600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr19:42695400-42696600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:42695400-42696600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:42695400-42696800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr19:42695400-42696800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr19:42695400-42696800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:42695400-42696800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:42695400-42696800	Enhancers	HMEC	breast
35	chr19:42695400-42696800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr19:42695400-42697000	Enhancers	Hela-S3	cervix
37	chr19:42695400-42697000	Enhancers	NHEK	skin
38	chr19:42695600-42696400	Enhancers	Thymus	Thymus
39	chr19:42695600-42696600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr19:42695600-42696600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:42695600-42696600	Enhancers	Placenta	Placenta
42	chr19:42695600-42696600	Enhancers	Small Intestine	intestine
43	chr19:42695600-42696800	Enhancers	A549	lung
44	chr19:42695600-42697000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:42695800-42696600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:42695800-42696600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:42695800-42696600	Enhancers	Primary T cells from cord blood	blood
48	chr19:42695800-42696600	Enhancers	Esophagus	oesophagus
49	chr19:42695800-42696600	Enhancers	Gastric	stomach
50	chr19:42695800-42696600	Enhancers	Lung	lung

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